1010712009: Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Muscle finding\Disorder of muscle\...
• \Degenerative disorder of muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Chronic disease of musculoskeletal system\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Developmental disorder\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4213648012	Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4213649016	EDMD2 - autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213650016	Autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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